Multiple isoforms excluding normal RhD mRNA detected in Rh blood group D_el phenotype with RHD 1227A allele

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• 作者：Chao-Peng Shao ; Wen Xiong and Yi-Yan Zhou
• 关键词：Rh blood group ; D_el phenotype ; RHD 1227A allele ; mRNA
• 刊名：Transfusion and Apheresis Science
• 出版年：2006
• 出版时间：April 2006
• 年：2006
• 卷：34
• 期：2
• 页码：145-152
• 全文大小：1249 K

文摘

The RhD mRNA was analyzed in both Rh-positive and D_el phenotypes with RHD 1227A allele through sequencing. As a result, five and six transcripts were detected in Rh-positive and D_el, respectively. Four of them have identical sequences between Rh-positive and D_el. Those are the transcripts with exon 9, exons 8 and 9, exons 7 and 9, and exons 7–9 spliced out compared normal RhD mRNA that was detected in Rh-positive but not in D_el individuals. Unexpectedly, two additional transcripts were found in D_el individuals. Its exon 9 or exons 8–9 were spliced out, but interestingly both possess a 170 bp segment of sequence from intron 7 of RHD. We may conclude that a normal RhD protein does not exist in a D_el individual with RHD 1227A allele since the exon 9 was always spliced out due to the silent mutation at the end of exon 9. The transcripts without exon 9 was also detected in the normal Rh-positive individual and further confirmed by a specific reverse-transcription PCR (RT-PCR) system.